{"orpha":480682,"name":"POGLUT1-related limb-girdle muscular dystrophy R21","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2Z","LGMD type 2Z","LGMD2Z","Limb-girdle muscular dystrophy type 2Z","POGLUT1-related LGMD R21"],"definition":"A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480682/","orphanet_url":"https://www.orpha.net/en/disease/detail/480682","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à POGLUT1 R21","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2Z","Dystrophie musculaire des ceintures type 2Z","LGMD associée à POGLUT1 R21","LGMD type 2Z","LGMD2Z"],"definition":"Dystrophie musculaire des ceintures autosomique récessive rare caractérisée par l'apparition à l'âge adulte d'une faiblesse et d'une atrophie musculaires progressives des muscles proximaux des membres supérieurs et inférieurs, entraînant l'apparition d'une aile scapulaire et la perte de la mobilité. La fonction respiratoire peut s'altérer au cours de l'évolution de la maladie. Une dégénérescence du tissu graisseux des régions internes des muscles de la cuisse épargnant les zones externes ainsi qu'une réduction de l'alpha-dystroglycane identifiée par biopsie musculaire ont été rapportées."},"de":{"name":"POGLUT1-assoziierte Gliedergürtelmuskeldystrophie R21","synonyms":["Gliedergürtelmuskeldystrophie Typ 2Z","Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 2Z","LGMD Typ 2Z","LGMD2Z","POGLUT1-assoziierte LGMD R21"],"definition":"Eine autosomal-rezessive Form der Gliedergürtel-Muskeldystrophie, bei der im Erwachsenenalter eine fortschreitende Muskelschwäche und -atrophie in den proximalen oberen und unteren Gliedmaßen auftritt, die zu einer Scapula alata und dem Verlust des unabhängigen Gehens führt. Die Atmungsfunktion kann im Verlauf der Krankheit beeinträchtigt werden. Es wurde über eine fettige Degeneration der inneren Bereiche der Oberschenkelmuskulatur berichtet, wobei die äußeren Bereiche verschont blieben, sowie über eine Verringerung von Alpha-Dystroglykan in Muskelbiopsien."},"es":{"name":"Distrofia muscular de cinturas R21 asociada a POGLUT1","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2Z","LGMD2Z"],"definition":"Es una distrofia muscular de cinturas autosómica recesiva poco frecuente caracterizada por el inicio en la edad adulta de debilidad y atrofia muscular progresiva en la parte proximal de las extremidades superiores e inferiores, resultando en escápula alada y pérdida de la deambulación independiente. La función respiratoria puede verse afectada en el curso de la enfermedad. Se ha descrito degeneración grasa de la región interna de los músculos del muslo sin afectación de las áreas externas, así como una disminución de los niveles de alfa-distroglicano en las biopsias musculares."},"it":{"name":"Distrofia muscolare dei cingoli R21 correlata a POGLUT1","definition":"Si tratta di una distrofia muscolare dei cingoli rara, a trasmissione autosomica recessiva, che esordisce nell'età adulta con debolezza e atrofia muscolare progressive, che interessano la porzione prossimale degli arti superiori e inferiori, associate alle scapole alate e alla perdita della deambulazione autonoma. Con la progressione della malattia, viene compromessa la funzione respiratoria. I pazienti possono presentare una degenerazione grassa delle regioni interne dei muscoli della coscia, che risparmia le aree esterne, e una riduzione dell'alfa-distroglicano nelle biopsie muscolari."},"nl":{"name":"POGLUT1-gerelateerde limb-girdle-spierdystrofie R21","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2Z","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2Z","Autosomaal recessieve limb-girdle-spierdystrofie type 2Z","LGMD type 2Z","LGMD2Z","Limb-girdle musculaire dystrofie type 2Z","POGLUT1-gerelateerde LGMD R21"],"definition":"Een zeldzame, autosomaal recessieve limb-girdle-spierdystrofie, gekarakteriseerd door aanvang in de volwassenheid van progressieve spierzwakte en -atrofie in proximale bovenste en onderste ledematen, wat leidt tot afstaande schouderbladen en verlies van zelfstandig loopvermogen. Respiratoire functie kan verstoord worden gedurende het verloop van de ziekte. Er werd vetdegeneratie in inwendige delen van dijspieren gerapporteerd, zonder betrokkenheid van uitwendige delen, alsook reductie van alfa-dystroglycan in spierbiopten."},"pt":{"name":"Distrofia muscular das cinturas dos membros R21 POGLUT1-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2Z"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2Z","synonyms":["LGMD2Z"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2Z","synonyms":["LGMD2Z"]},"uk":{"name":"POGLUT1-асоційована кінцівково-поясна мязова дистрофія R21","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2Z","LGMD тип 2Z","LGMD2Z","Мязова дистрофія мязів поясу кінцівок, тип 2Z","LGMD R21, повязаний з POGLUT1"],"definition":"A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies."},"zh":{"name":"POGLUT1相关肢肌营养不良R21型","synonyms":["常染色体隐性肢肌营养不良2Z型"],"definition":"一种罕见的常染色体隐性肢带肌营养不良症，其特征是成年后出现上肢和下肢近端进行性肌无力和萎缩，导致肩胛翼，丧失独立行走能力。病程中呼吸功能可发生障碍。有报道称，大腿肌肉内部区域的脂肪变性，而外部区域无脂肪变性，以及肌肉活检中α-半胱氨酸减少。"},"tr":{"name":"POGLUT1 -ilişkili ekstremite-kuşak kas distrofisi R21","synonyms":["LGMD2Z","LGMD tip 2Z","POGLUT1-ilişkili LGMD R21","Ekstremite-kavşak kas distrofisi tip 2Z","Otozomal çekinik ekstremite-kavşak kas distrofisi tip 2Z"]}},"xrefs":[{"source":"OMIM","code":"617232","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.41","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014977","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14977","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310660","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102015,"name":"Autosomal recessive limb-girdle muscular dystrophy","classifications":[156,181]},{"orpha":309450,"name":"Disorder of O-xylosylglycan synthesis","classifications":[150,156]}],"children":[],"genes":[{"symbol":"POGLUT1","name":"protein O-glucosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27807076[PMID]","hgnc":"22954","ensembl":"ENSG00000163389","omim":"615618","loci":["3q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"27807076[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27807076[PMID]"}],"phenotypes":null}